期刊
BLOOD
卷 117, 期 10, 页码 2887-2890出版社
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2010-08-301515
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资金
- Ministry of Education, Science, and Culture of Japan [20390302]
- Ministry of Health, Labor and Welfare of Japan [20-4, 19-9]
- Grants-in-Aid for Scientific Research [20390302] Funding Source: KAKEN
Autoimmune lymphoproliferative syndrome (ALPS) is classically defined as a disease with defective FAS-mediated apoptosis (type I-III). Germline NRAS mutation was recently identified in type IV ALPS. We report 2 cases with ALPS-like disease with somatic KRAS mutation. Both cases were characterized by prominent autoimmune cytopenia and lymphoadenopathy/splenomegaly. These patients did not satisfy the diagnostic criteria for ALPS or juvenile myelo-monocytic leukemia and are probably defined as a new disease entity of RAS-associated ALPS-like disease (RALD). (Blood. 2011; 117(10): 2887-2890)
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